Short stature, unusual face, delta phalanx, and abnormal vertebrae and ribs in a girl born to half-siblings

2017 ◽  
Vol 173 (5) ◽  
pp. 1152-1158 ◽  
Author(s):  
Robert Pogue ◽  
Felipe A. Marques ◽  
Cristiane Kopacek ◽  
Rosana C. M. Rosa ◽  
Luiza E. Dorfman ◽  
...  
Keyword(s):  
Short Stature ◽  
Delta Phalanx

A highly sensitive sandwich enzyme immunoassay of urinary growth hormone in children with short stature, Turner's syndrome, and simple obesity

1989 ◽  
Vol 121 (4) ◽  
pp. 513-519 ◽  
Author(s):  
Hiroshi Tomita ◽  
Masamichi Ogawa ◽  
Takashi Kamijo ◽  
Osamu Mori ◽  
Eiji Ishikawa ◽  
...  
Keyword(s):  
Short Stature ◽  
Enzyme Immunoassay ◽  
Gh Deficiency ◽  
Urine Samples ◽  
Turner's Syndrome ◽  
Turner’S Syndrome ◽  
Highly Sensitive ◽  
Significant Difference ◽  
Simple Obesity ◽  
Sandwich Enzyme Immunoassay

Abstract. GH values were determined by a highly sensitive sandwich enzyme immunoassay in the 1st morning and/or 24-h accumulated urine samples in 94 children (short stature 70, including 14 with complete GH deficiency, 9 with partial GH deficiency, and 47 with GH-normal short stature; Turner's syndrome, 10, and simple obesity, 14). GH values were also determined in the 2nd to 4th urine samples taken on the same day together with the 1st morning urine in 5 of them. GH values in the 1st morning urine correlated significantly with those of the 24-h urine and with serum peak and mean GH values during nocturnal sleep as a physiological GH secretion test. The 2nd to 4th urines had lower GH concentrations than the 1st morning urine. The GH value of the 1st morning urine in complete GH deficiency was significantly lower than those in GH-normal short stature, partial GH deficiency and Turner's syndrome. However, no significant difference was detected in urinary GH values between complete GH deficiency and simple obesity. We conclude that 1st morning urinary GH estimation may be useful for differentiation of complete GH deficiency from other causes of short stature, but may be difficult for the distinction between complete GH deficiency and obesity with normal GH secretory ability.

Osteogenesis imperfecta and short stature: effect of sclerostin antibody treatment in oim/oim mice

2013 ◽  
Author(s):  
Cardinal Mickael ◽  
Nyssen-Behets Catherine ◽  
Ominsky Mike ◽  
Devogelaer Jean-Pierre ◽  
H Manicourt Daniel
Keyword(s):  
Osteogenesis Imperfecta ◽  
Short Stature ◽  
Antibody Treatment ◽  
Sclerostin Antibody

Growth hormone therapy in a child with severe short stature due to Miller-McKusick-Malvaux (3M) syndrome-2

2019 ◽  
Author(s):  
Sumudu Seneviratne ◽  
Deepthi de Silva ◽  
Emily Cottrell ◽  
Piumi Kuruppu ◽  
KSH de Silva ◽  
...  
Keyword(s):  
Growth Hormone ◽  
Hormone Therapy ◽  
Short Stature ◽  
Growth Hormone Therapy ◽  
Severe Short Stature

Altered frequency of sequence variants in growth-related genes in children with short stature

2014 ◽  
Author(s):  
Philip Murray ◽  
Adam Stevens ◽  
Daniel Hanson ◽  
Andrew Whatmore ◽  
Mireille Bonnemarie ◽  
...  
Keyword(s):  
Short Stature ◽  
Sequence Variants
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